Syndromic microphthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations.[2] Syndromic microphthalmia accounts for 60 to 80% of all cases of microphthalmia.[2] Syndromic microphthalmias are caused by mutations in genes related to embryonic craniofacial development, and they are typically classified based on their genetic cause.
^ abcd"Microphthalmia". MedlinePlus. US National Library of Medicine. Retrieved 2021-11-04.
^ abEintracht J, Corton M, FitzPatrick D, Moosajee M (2020). "CUGC for syndromic microphthalmia including next-generation sequencing-based approaches". Eur J Hum Genet. 28 (5): 679–690. doi:10.1038/s41431-019-0565-4. PMC 7171178. PMID 31896778.{{cite journal}}: CS1 maint: multiple names: authors list (link)
and 22 Related for: Syndromic microphthalmia information
defects, it may be diagnosed as syndromicmicrophthalmia (MCOPS). Approximately 60 to 80% of microphthalmia cases are syndromic. Several types of MCOPS have...
Syndromicmicrophthalmia is a class of rare congenital anomalies characterized by microphthalmia along with other non-ocular malformations. Syndromic...
Lenz microphthalmiasyndrome is a very rare inherited disorder characterized by abnormal smallness of one or both eyes (microphthalmos) sometimes with...
related disorder is Lenz microphthalmiasyndrome. Diagnosis can be confirmed through DNA testing. The first features of this syndrome noted were the abnormal...
facial deformities such as cyclopia Structural eye defects, including microphthalmia, Peters' anomaly, cataract, iris or fundus (coloboma), retinal dysplasia...
Cross syndrome (also known as "Cross–McKusick–Breen syndrome", "hypopigmentation and microphthalmia", and "oculocerebral-hypopigmentation syndrome") is...
(August 1994). "A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1". Nature...
presentation of the syndrome is highly variable. Some of its features may include: Ocular abnormalities: epibulbar dermoids, microphthalmia, anophthalmia,...
embryonic optic cup. Mutations of the CHX10 gene can cause non-syndromicmicrophthalmia. By studying mice with CHX10 mutations Sowden looks to identify...
"Expanding the phenotypic spectrum of PORCN variants in two males with syndromicmicrophthalmia". European Journal of Human Genetics. 23 (4): 551–4. doi:10.1038/ejhg...
A syndrome is a set of medical signs and symptoms that are correlated with each other. A syndrome can affect one or more of body systems. Different syndromes...
[citation needed] List of syndromes Characteristics of syndromic ASD conditions "Cohen syndrome". Genetic and Rare Diseases Information Center. Retrieved...
leucism. It is caused by a mutation in the microphthalmia-associated transcription factor (MITF) gene. Tietz syndrome was first described in 1963 by Walter...
Waardenburg anophthalmia syndrome is a rare autosomal recessive genetic disorder which is characterized by either microphthalmia or anophthalmia, osseous...
Abuelaish I, Harel T, et al. (2005). "CHX10 mutations cause non-syndromicmicrophthalmia/ anophthalmia in Arab and Jewish kindreds". Hum. Genet. 115 (4):...
following conditions and syndromes: Arrhinia with choanal atresia and microphthalmiasyndrome (Bosma arhinia microphthalmiasyndrome) Holoprosencephaly 1...
Oculocerebrocutaneous syndrome is a condition characterized by orbital cysts, microphthalmia, porencephaly, agenesis of the corpus callosum, and facial...
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